Results 81 to 90 of about 467 (113)

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes. [PDF]

Front Neurol
Alvi JR, Wasim A, Ahdi SG, Sultan T, Zia-Ur-Rehman M, Al-Thihli K, Al Murshedi F, Al Futaisi A.   +7 more
europepmc   +1 more source

Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology. [PDF]

Curr Opin Urol
Wagner CA, Sayer JA, Straub M.
europepmc   +1 more source

Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report. [PDF]

BMC Urol, 2023
Bai P, Zhang W, Lai L, Huang H, Qin J, Duan B, Wang H, Chen Y, Jia Y, Xing J, Wang T, Chen B.   +11 more
europepmc   +1 more source

P269: The genetic prevalence of molybdenum cofactor deficiency as a result of MOCS1 and MOCS2: A genetics and biostatistics perspective

Genetics in Medicine Open
Ishita Patel, Ethan Su, Katreya Lovrenert, Donald Bodner, Fredrick Schumacher, Chen-Han Wilfred Wu   +5 more
doaj   +1 more source

Complex Genetic Framework in Familial Amyotrophic Lateral Sclerosis With a C9ORF72 Mutation: A Case Report. [PDF]

Cureus
Frolov A, D'sa E, Henderson C, Guzman MA, Hayat G, Martin JR.   +5 more
europepmc   +1 more source

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release. [PDF]

J Clin Invest
Fu CY, Kohl JB, Liebsch F, D'Andrea D, Ditrói T, Ogata S, Neuser F, Mai M, Mellis AT, Kouroussis E, Morita M, Gehling T, Santamaria-Araujo JA, Yeo SY, Endepols H, Křížková M, Kozich V, Krueger M, Hennermann JB, Barayeu U, Akaike T, Nagy P, Filipovic M, Schwarz G.   +23 more
europepmc   +1 more source

Effects of Molybdenum Supplementation in the Form of Ammonium and Sodium Salts on Trophoblast Cell Physiology and Gene Expression In Vitro. [PDF]

J Dev Biol
Foteva V, Fisher JJ, Qiao Y, Smith R.
europepmc   +1 more source

Prenatal diagnosis of molybdenum cofactor deficiency. [PDF]

Case Rep Perinat Med
Araújo MT, Vicente M, Carvalho I, Carocha AI, Conceição C, Martins A, Cohen Á, Rijo C.   +7 more
europepmc   +1 more source

Nitric oxide promotes cysteine N-degron proteolysis through control of oxygen availability. [PDF]

Proc Natl Acad Sci U S A
Kim H, Tian YM, Ratcliffe PJ, Keeley TP.
europepmc   +1 more source

Autism spectrum disorders: an impaired glycolysis induces an ATP deficiency and a reduced cell respiration

In two previous studies, based on human olfactory ecto-mesenchymal stem cells (OE-MSC) of 11 paQents with auQsm spectrum disorders (ASD) and 11 healthy individuals, we demonstrated that the lower abundance of the enzyme MOCOS (MOlybdenum COfactor ...
Leimkuhler, Silke, Caillol, Damien, Féron, Francois, Iranzo, Olga, Guiraudie-Capraz, Gaelle, Gepner, Bruno, Fourel, Laure   +6 more
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